Description
Product Characteristics:
The GCLC gene consists of 16 exons and encodes the 636 amino acid protein g-GCSc (g-glutamylcysteine synthetase heavy subunit), also designated g-L-glutamate-L-cysteine ligase catalytic subunit (GLCLC). g-GCSc is expressed in hemocytes, brain, liver and kidney. g-GCSc associates with a regulatory or modifier subunit, g-GCSm (g-glutamylcysteine synthetase light subunit), to form a heterodimer, g-GCS. g-GCS is the first enzyme involved and the rate determining step in glutathione biosynthesis. Oxidants, cadium and methyl mercury upregulate the transcription of g-GCS. H2O2 regulation depends on the Yap1 protein and the presence of glutamate, glutamine and lysine. Cadium regulates transcription through proteins Met-4, Met-31 and Met-32. Cbf1, a DNA binding protein, inhibits transcription of g-GCS. Chemopreventive compounds cause increased levels of g-GCSc in kidney tissues, which may protect against chemically induced carcinogenesis. A His370Leu amino acid change in g-GCSc causes deficiencies in activity which are responsible for hemolytic anemia and low red blood cell glutathione levels.Defects in GCLC are the cause of hemolytic anemia.
Subcellular location: Cytoplasm
Synonyms: Gamma ECS, Gamma GCS, Gamma glutamylcysteine synthetase, Gamma-ECS, Gamma-glutamylcysteine synthetase, GCL, GCLC, GCLM, GCS, GCS Heavy Chain antibody GLCL, GLCLC, GLCLR, Glutamate cysteine ligase catalytic subunit, Glutamate cysteine ligase gamma glutamylcysteine synthetase regulatory 30.8kD, Glutamate cysteine ligase catalytic subunit, Glutamate cysteine ligase modier subunit, Glutamate cysteine ligase regulatory protein, Glutamate cysteine ligase regulatory subunit, Glutamate--cysteine ligase catalytic subunit, GSH1_HUMAN.
Target Information: Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010]